Mutation details: A floxed cDNA of exons 13 through 16 and a neo cassette were inserted upstream of exon 13. Exon 16 was replaced with one in which nucleotide substitutions result in the amino acid substitution of valine for lysine at position 613 (L613V). Cre-mediated recombination removed the cDNA and neo cassette. The amino acid substitution is a kinase activating mutation associated with Noonan syndrome.
(J:172034)